UTR mutation analysis

One of the objectives of molecular biologists is to determine the types and amounts of various proteins. The presence of proteins, in turn, depend upon the concentration of mRNA from which it is synthesized, the frequency at which it is translated and the stability of mRNA or protein itself. The regulatory elements control the stability of the corresponding mRNA in the cytoplasm and the rate of its translation into proteins. Moreover they play an important role in regulating the cellular locations of some mRNAs. One of the most important regulatory elements is untranslated regions, 5′ and 3′ ends of mRNA which affects the translation efficiency of mRNA and thereby determines the synthesis of protein encoding it. A mutation in UTR either at 5′ or 3′ or both ends would be reflected in the form of change in the concentration of protein. And this deviation from the normal concentration may be implicated in a disorder of human body and it is for this reason, the present work included their analysis. The pubmed was completely screened to identify an X-chromosome related UTR mutations in the human genome. The genes showing these mutations were annotated for gene name, mutation type and position of mutations. It was discovered that mutations at any end in 5′ or 3′ result in disease. In UTR mutations 46 were found to be located on X-chromosome. Out of these 5′ end was found to be associated with 38 mutations and 13 mutations were found at 3′ end. Some mutations could be mapped to both 5′ and 3′ ends. The type of disease depends upon the gene in which mutation is occurring. Thus a detailed analysis of UTR mutations revealed that disease could be caused not only because of mutations in the protein coding regions but also at the regions which are not translated and those regions could be further analyzed for the probability that these are disease causing regions.